Archive Of Standardized Exam Questions: Gaucher Disease

OVERVIEW

This page is dedicated to organizing various examples of standardized exam questions whose topic is Gaucher disease. While this may seem a odd practice, it is useful to see multiple examples of how Gaucher disease will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a topic is quite valuable.

KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)

When it comes to standardized exams, each topic has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for Gaucher disease

  • Issues with bones:
    • Osteoporosis 
    • Aavascualr necrosis of femur
    • Bone crisis 
  • Pancytopenia can be detected on a CBC
    • Low platelets
    • Anemia
    • Low white blood cells 
  • Lipid laden macrophages (in the bone marrow): these are the classic “Gaucher cells” that resemble crumpled tissue paper. 
QUESTION EXAMPLES

Question # 1

 

Explanation # 1

 

Question # 2

 

Explanation # 2

 

TESTABLE FACTS ABOUT THIS TOPIC (BEYOND ITS IDENTIFICATION)

Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:

  • What is it: a lysosomal storage disease 
    • Deficient enzyme: Glucocerebrosidase (β-glucosidase) 
    • Accumulated substrate: Glucocerebroside 
    • Inheritance pattern: autosomal recessive 
  • Treatment: recombinant glucocerebrosidase 

 

 

Page Updated: 05.04.2017